Enchondromatosis or Ollier disease is a skeletal disorder characterized by the presence of multiple enchondromas in the metaphyseal regions. It is nonhereditary and occurs sporadically.
Ollier in his original description described the distribution of enchondromas confined to one side of the limbs. Some authors still like to make this distinction to use term Ollier disease in cases where this distribution is present and use enchondromatosis or multiple enchondromatosis for cases where the distribution is more symmetric.
The disease is seen in early childhood and there is no gender predilection.
The disorder is thought to result from random and spontaneous mutations.
A rare variant of the condition in which enchondromatosis is associated with multiple cavernous haemangiomata and phleboliths in the soft tissue was described with Maffucci.
Enchondromatosis can occur anywhere but most frequently involve the short tubular bones of the hands and feet. Bilateral occurrence needs not to be symmetrical necessarily.
The lesions are essentially hamartomatous proliferations of cartilage cells within the metaphyses or perversion of enchondral growth and are therefore confined to cylindrical bones.. The cells appear to be epiphysial chondroblasts which fail to mature properly and migrate into the metaphysis where they produce masses of useless disorganized cartilage cells which may closely mimic neoplastic chondromatous growth.
In mild cases, the lesions may be confined to one hand and there is a strong tendency to unilateral distribution of the lesions. Lesions affecting the more proximal bones are more extensive and vigorous in growth and the region of the knee-joint and the lower end of the radius and ulna are particularly common sites.
When a single limb is affected, severe shortening may develop with associated deformities such as genu varum or valgum.
Clinical Presentation of Enchondromatosis
The condition is already present at birth when it may occasionally be noticed because of shortness of an affected limb. More usually, a child presents with swelling of the fingers, deformity or shortening of a limb. In less severe cases, the presenting symptom may be a pathological fracture in adolescent or adult life.
If pain occurs when the child is older, this should raise the concern of malignant transformation.
Leg length discrepancy may occur when lower limbs are involved.
The increasing size of multiple enchondromata in hands interferes with movements of the fingers so that eventually the hand may become almost useless. Shortening, where lesions involve one lower limb, may be anything from 5 to 25 centimeters (2 to 10 inches) by the time growth is complete.
The incidence of sarcomatous change varies widely in different series.
- Maffucci syndrome
In the small bones of the hand, the lesions are globular and expand the bone so that the cortex becomes extremely thin and even perforates with an external projection of the cartilaginous mass. Spotty calcification is often present in the enchondromatous lesions.
In the long bones, the lesions involve the metaphyses and extend into the diaphysis as elongated, translucent columns giving rise to a striated appearance which is pathognomonic. The metaphyseal region is expanded but relatively undistorted in shape and the shaft is short and often thick and dense.
Sometimes a lesion projects towards the surface of the bone but such projections point towards the epiphysial line in contrast to those in osteochondromatosis which are always inclined towards the center of the shaft. The epiphyses are at first normal but in older children, they may show irregularity and mottling.
Metachondromatosis also shows multiple enchondromata, especially in the bones of the hands and feet, but differs in that the bone lesions tend to regress and the lesion is of dominant inheritance.
Mild lesions may not require any active treatment and should be kept under observation. Where required the treatment would be surgical.
For small bones like that of hand, chondromatas in affected phalanges and metacarpals can be curretted out and projections removed. If necessary, the cavities can be filled with autogenous or stored cancellous bone or cortical bone graft.
The multiplicity of lesions makes it impossible to tackle all of the affected regions in a severely involved hand and selection for operative treatment should be made of those bones that are interfering with finger movement. Sometimes a complete ray of the hand may need to be removed.
In other sites, removal may be needed at intervals because of discomfort, difficulty in dressing or the sheer weight of the excess chondroid tissue.
In the lower limbs, a significant problem is leg length inequality. If the limb inequality at the end of growth is likely to be less than 10 centimeters (4 inches), leg-lengthening may be appropriate but if the shortening is very severe, amputation may be the only solution.
Osteotomy may be required to correct deformity and the fragments unite readily.
A watch needs to be maintained in adolescence and adult life for evidence of sarcomatous degeneration, especially in Maffucci’s syndrome. Rapid enlargement of a tumor, particularly in a bone close to the vertebral axis, pain, or radiological suspicion of malignant change is an indication for biopsy.
There is also an increased risk of developing gliomas, pancreatic and juvenile granulosa cell tumors of the ovary.
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